Gene Detail


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Gene Symbol EPAS1
Synonyms bHLHe73 | ECYT4 | HIF2A | HLF | MOP2 | PASD2
Gene Description EPAS1, endothelial PAS domain protein 1, is an alpha subunit member of the hypoxia-inducible factor (HIF), which is an oxygen sensitive transcription complex that when dysregulated can promote tumor progression (PMID: 29032465, PMID: 22931260, PMID: 28322821) and congenital heart disease (PMID: 30487161). EPAS1 mutations have been identified in paraganglioma (PMID: 22931260, PMID: 23533246), pheochromocytoma (PMID: 23533246), and hemangioblastoma (PMID: 26514359).
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